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Gene therapy for monogenic disorders: challenges, strategies, and perspectives

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Journal of Genetics and Genomics 2024年第2期51卷 133-143页

作者： Yi Zhang zhi-ying Wu Department of Medical Genetics and Center for Rare Diseases Second Affiliated HospitalZhejiang University School of MedicineHangzhouZhejiang 310009China Department of Neurology Second Affiliated HospitalZhejiang University School of MedicineHangzhouZhejiang 310009China Key Laboratory of Medical Neurobiology of Zhejiang Province HangzhouZhejiang 310009China

Monogenic disorders refer to a group of human diseases caused by mutations in single genes. While disease-modifying therapies have offered some relief from symptoms and delayed progression for some monogenic diseases, most of these diseases still lack effective treatments. In recent decades, gene therapy has emerged as a promising therapeutic strategy for genetic disorders. Researchers have developed various gene manipulation tools and gene delivery systems to treat monogenic diseases. Despite this progress, concerns about inefficient delivery, persistent expression, immunogenicity, toxicity, capacity limitation, genomic integration, and limited tissue specificity still need to be addressed. This review gives an overview of commonly used gene therapy and delivery tools, along with the challenges they face and potential strategies to counter them.

关键词： Gene therapy Monogenic diseases Geneediting Genedelivery Challenges

CSCO guidelines for colorectal cancer version 2024:Updates and discussions

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Chinese Journal of Cancer Research 2024年第3期36卷 233-239页

作者： Liubo Chen Hanguang Hu ying Yuan Shanshan weng Department of Medical Oncology(Key Laboratory of Cancer Prevention and Intervention China National Ministry of EducationKey Laboratory of Molecular Biology in Medical SciencesZhejiang ProvinceChina)the Second Affiliated HospitalZhejiang University School of MedicineHangzhou 310009China Zhejiang Provincial Clinical Research Center for CANCER Hangzhou 310009China Cancer Center Zhejiang UniversityHangzhou 310058China

According to the latest global cancer statistics,colorectal cancer(CRC)is the most common malignancy of the digestive system and the second most lethal among all cancer types(1).In China,CRC is the second most prevalent cancer,following only after lung cancer(2).The first version of the Chinese Society of Clinical Oncology(CSCO)guideline was launched in 2017 and has been updated annually based on the latest findings of clinical research,drug accessibility and expert consensus(3-8).Here,we present the main updates of the 2024 version compared to the 2023 version.

关键词： CSCO colorectal cancer

Chinese patients with adult onset leukodystrophy caused by CST3 variants

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Journal of Genetics and Genomics 2024年第7期51卷 778-780页

作者： Yi Zhang zhi-ying Wu Department of Medical Genetics and Center for Rare Diseases Zhejiang Key Laboratory of Rare Diseases for Precision Medicine and Clinical TranslationSecond Affiliated HospitalZhejiang University School of MedicineHangzhouZhejiang 310009China Nanhu Brain-computer Interface Institute HangzhouZhejiang 314050China Department of Neurology Second Affiliated HospitalZhejiang University School of MedicineHangzhouZhejiang 310009China MOE Frontier Science Center for Brain Science and Brain-machine Integration School of Brain Science and Brain MedicineZhejiang UniversityHangzhouZhejiang 310012China

Leukodystrophies represent a group of cerebral white matter disorders that mainly affect axon-glia *** disorders are clinically diverse and display significant genetic *** is challenging to differentiate hereditary leukodystrophies,particularly those that present in adulthood,from acquired leukodystrophies and other genetic disorders,such as multiple sclerosis(MS)or hereditary spastic paraplegia(HSP)(Wei et al.,2021).Over the past few decades,a series of causative genes associated with leukodystrophies have been identified(Kohler et al.,2018).Nevertheless,a significant proportion of patients still lack a precise molecular diagnosis.

关键词： al. patients Kohler

Enhancing whole yeast genome rearrangements through multiple LoxPsym sequences

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Science China(Life Sciences) 2024年第9期67卷 2045-2047页

作者： Bing-zhi Li ying-Jin Yuan Frontiers Science Center for Synthetic Biology and Key Laboratory of Systems Bioengineering(Ministry of Education) School of Chemical Engineering and TechnologyTianjin UniversityTianjin 300072China Frontiers Research Institute for Synthetic Biology Tianjin UniversityTianjin 300072China

Genomic rearrangements play a significant role in disease,evolution,and tumorigenesis(Mani and Chinnaiyan,2010).While single nucleotide polymorphisms(SNPs)and small insertions/deletions contribute substantially to gen... 详细信息

关键词： insertion sequences

Microstructure and mechanical properties of Ti/Al/Ti clad plates prepared via powder-in-tube method

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Journal of Iron and Steel Research International 2024年第3期31卷 670-687页

作者： Xian-lei Hu Qin-cheng Xie Yi Yuan ying zhi State Key Laboratory of Rolling and Automation Northeastern UniversityShenyang 110819LiaoningChina Suzhou Dongbao Haixing Metal Material Technology Co. Ltd.Suzhou 215600JiangsuChina School of Material Science and Engineering Northeastern UniversityShenyang 110819LiaoningChina

The Ti/Al/Ti clad plates exhibit a broad spectrum of potential ***,the conventional techniques of hot-pressing composite and explosive composite are intricate and environmentally hazardous.A novel method was introduced for preparing clad plates,namely,the powder-in-tube *** method involves a combination of cold rolling,annealing at a temperature of 550℃,and double *** morphology of the intermetallic compound layer was analyzed through the utilization of interface stripping test,tensile test,and microscopic *** interface morphology,interface bonding properties,tensile fracture structures,and properties of plates under the first and second rolling were compared,along with the effects of intermetallic compounds on the interface *** results indicate that the powder-in-tube method,when annealed at 550℃,can produce a composite plate featuring a complete and uniform Ti/Al *** obtained plate exhibits a peeling strength of 21.5 N/mm,tensile strength of 424 MPa,and elongation of 11.5%.Furthermore,a systematic analysis was conducted to determine the causes of performance degra-dation observed during annealing at temperatures of 600 and 650℃.

关键词： Powder-in-tube method-Ti/Al/Ti clad plate Annealing Cold rolling-Mechanical property

Influence of friction-lubrication characteristics varying with rolling speed on instability of chatter and slip in cold tandem rolling process

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Journal of Iron and Steel Research International 2024年第4期31卷 894-908页

作者： Yan-li Xin zhi-ying Gao Bo Tian Qing-dong Zhang School of Mechanical Engineering University of Science and Technology BeijingBeijing 100083China

In the high-speed cold tandem rolling process of thin plate,chatter or slip instability gives rise to the deterioration of equipment and product *** instability behavior is closely related to interfacial friction-lubrication con-dition which is generally characterized by the friction ***,with higher and higher speed requirements,the commonly used model of friction coefficient is no longer applicable and accurate.A novel approach is suggested to calculate the speed-dependent friction coefficient,in which the viscosity-pressure-temperature effects of the lubricant,surface roughness states of work rolls and rolled piece are comprehensively involved and the mixed flm lubrication theory is ***,the influences of friction coefficient on the instability of slip and chatter are investigated for a five-stand cold tandem rolling *** one side,the critical friction coefficient for each stand is determined by calculating the corresponding slip factor;on the other hand,the friction coefficient varying with rolling speed is combined with the model of theoretical critical rolling speed presented under constant friction coefficient,so that the speed threshold is ***,the stable and unstable regions corresponding to the rear three stands are individually discussed,and the technical strategies are proposed to suppress both slip and chatter frequently occurring in the actual rolling process.

关键词： Cold tandem rolling:Oil film thickness Speed-dependent friction coefficient-Slip:Chatter

Paroxysmal Kinesigenic Dyskinesia:Genetics and Pathophysiological Mechanisms

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Neuroscience Bulletin 2024年第7期40卷 952-962页

作者： Jiao-Jiao Xu Hong-Fu Li zhi-ying Wu Department of Medical Genetics and Center for Rare Diseases The Second Affiliated HospitalZhejiang University School of MedicineHangzhou 310009China Department of Neurology in the Second Affiliated Hospital Key Laboratory of Medical Neurobiology of Zhejiang ProvinceZhejiang University School of MedicineHangzhou 310009China

Paroxysmal kinesigenic dyskinesia(PKD),the most common type of paroxysmal movement disorder,is characterized by sudden and brief attacks of choreoathetosis or dystonia triggered by sudden voluntary *** is mainly caused by mutations in the PRRT2 or TMEM151A *** exact pathophysiological mechanisms of PKD remain unclear,although the function of PRRT2 protein has been well characterized in the last *** on abnormal ion channels and disturbed synaptic transmission in the absence of PRRT2,PKD may be channelopathy or synaptopathy,or *** addition,the cerebellum is regarded as the key pathogenic *** depolarization in the cerebellum is tightly associated with dyskinetic ***,in PKD,other than the cerebellum,the role of the cerebrum including the cortex and thalamus needs to be further investigated.

关键词： Paroxysmal kinesigenic dyskinesia PRRT2 TMEM151A Genetics Pathophysiological mechanisms

Reinforcement of High Impact Polystyrene by Aramid Nanoparticle Fillers Prepared via an In situ Bottom-up Approach

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Chinese Journal of Polymer Science 2024年第8期42卷 1167-1176页

作者： Xiang-Jun Gong zhi-Ping Zhao Chang-Mei Sun ying Zhang Rong-Jun Qu ying Wang School of Chemistry and Materials Science Ludong UniversityYantai 264025China

In this work,aramid nanoparticles(ANPs)were prepared in dimethyl formamide(DMF)solution containing high impact polystyrene(HIPS)via a bottom-up *** electron microscopy(TEM)images showed that the obtained ANPs were evenly distributed in the HIPS matrix without any *** composition of the ANPs,i.e.,poly(p-phenyl-p-phenylenediamine)(PPTA),was confirmed by Fourier transform infrared spectroscopy(FTIR),X-ray photoelectron spectroscopy(XPS)and X-ray diffractometer(XRD).The ANP/HIPS composites,obtained after ethanol precipitation,were added to neat HIPS as fillers to fabricate ANP/HIPS composite *** surface roughness and the glass transition temperature(T_g)of the sheets were characterized by atomic force microscope(AFM)and differential scanning calorimetry(DSC),*** with neat HIPS,the mechanical properties of the composite sheet were significantly improved,and the Young's modulus increased from 246.55 MPa to 2025.12 MPa,the tensile strength increased from 3.07 MPa to 29.76 MPa,and the toughness increased from 0.32 N/mm^2 to 3.92 N/mm^2,with an increase rate of 721%,869%and 1125%,***,the thermal stability of the composites improved with the increase in ANP content.

关键词： High impact polystyrene PPTA nanoparticle Reinforce Mechanical property

Enhanced photocatalytic performance by regulating the Ce^(3+)/Ce^(4+)ratio in cerium dioxide

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Frontiers of Chemical Science and Engineering 2024年第3期18卷 75-87页

作者： zhi Li Dongsheng Jia Wei Zhang ying Li Mitang Wang Dongliang Zhang School of Materials and Chemistry University of Shanghai for Science and TechnologyShanghai200093China

Cerium dioxide(CeO_(2))photocatalysts are used in treating environmental pollution and addressing the energy crisis due to their excellent oxygen storage capacities and abundant oxygen *** this paper,CeO_(2)precursors were synthesized with different water-alcohol ratios via a solvothermal method,and CeO_(2)photocatalysts with different Ce^(3+)/Ce^(4+)ratios were obtained by changing the precursor calcination atmospheres(air,Ar)as well as the calcination *** effects of CeO_(2)with different Ce^(3+)/Ce^(4+)ratios in photocatalytic degradations of methylene blue under visible light were investigated.X-ray photoelectron spectroscopy results showed that the surfaces of the samples calcined under Ar had higher Ce^(3+)/Ce^(4+)ratios and oxygen vacancy concentrations,which reduced the band gaps of the catalysts and improved their utilization of visible *** addition,the many Ce^(3+)/Ce^(4+)redox centers and oxygen vacancies on the sample surfaces improved the separation and transfer efficiencies of the photogenerated *** sample C2-Ar calcined under Ar showed a high adsorption capacity and excellent photocatalytic activity by removing 96%of the methylene blue within 120 min,which was more than twice the degradation rate of the sample(C2-air)prepared via calcination under *** experiments showed that photogenerated holes played a key role in the photocatalytic *** addition,a synergistic photocatalytic mechanism for the Ce^(3+)/Ce^(4+)redox centers and oxygen vacancies was elucidated in detail,and the sensitization of cerium dioxide by dyes aided the degradation of methylene blue.

关键词： CeO_(2) oxygen vacancies Ce^(3+)/Ce^(4+)ratios photocatalytic dye-sensitization